Intractable Pyridoxine-Dependent Seizures (PDS) In A Neonate: A Rare Case Report.

Abstract

Pyridoxine-dependent seizures (PDS) are a rare but treatable cause of neonatal seizures. PDS is characterized by intractable seizures in the neonatal period that respond dramatically to pyridoxine (vitamin B6) administration, making early recognition and intervention of paramount importance. This case report describes a 9-day-old male neonate referred to the neonatal intensive care unit (NICU) due to recurrent seizures beginning shortly after birth. Despite a full-term birth and an unremarkable prenatal history, the neonate exhibited abnormal quivering movements associated with shrill cry and altered sensorium. Initial investigations yielded normal results, and neuroimaging showed no structural abnormalities. Continuous electroencephalography (EEG) revealed a burst suppression pattern consistent with severe encephalopathy. Conventional antiepileptic drugs (AEDs) failed to control the seizures, prompting consideration of a broader differential diagnosis. Given the characteristic burst suppression EEG pattern and lack of response to AEDs, pyridoxine-dependent seizures (PDS) were suspected and confirmed upon a trial of intravenous pyridoxine. Genetic testing subsequently revealed compound heterozygous mutations in the ALDH7A1 gene, confirming the diagnosis of antiquitin deficiency, highlighting the genetic basis of this condition and its impact on pyridoxal phosphate metabolism.